Why the study?
What is the yield of RYR2 genetic testing and the utility of in silico tools for variant interpretation in suspected CPVT?
What is the yield of RYR2 genetic testing and the utility of in silico tools for variant interpretation in suspected CPVT?
In silico tools largely fail to enhance the interpretation of RYR2 genetic variants in patients with suspected CPVT.
May warrant caution using in silico tools for RYR2 variants in CPVT; leaves open exon-specific or functional validation approaches.
BACKGROUND: genetic test among patients referred for commercial genetic testing and examined factors impacting variant interpretability. METHODS: variants was examined. Six in silico tools were assessed using patient- and control-derived variants. RESULTS: variant. Exonic/topologic analyses revealed overrepresentation of patient variants in exons covering only one third of the protein. In silico tools largely failed to show evidence toward enhancement of variant interpretation. CONCLUSIONS: variant interpretation.
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Kapplinger et al. (2018) studied this question.
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